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Caption : Accreditation =Accreditation
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CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Connective Tissue Disorder with Bone Involvement NGS Panel and Del/Dup Analysis (43 genes)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Array based techniques

UNITED KINGDOM

Devon
EXETER

Accreditation
Molecular diagnosis of Chondrodysplasia Punctata (EBP, PEX7, DHAPAT, AGPS and ARSE genes)
Royal Devon and Exeter Hospital - Wonford site
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

Biochemical diagnosis of non rhizomelic type of punctata chondrodysplasia
Faculté de Médecine Pierre et Marie Curie - Hôpital Saint-Antoine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ISRAEL

ISRAEL
BEER YAAKOV

Molecular diagnosis of Chondrodysplasia Punctata (EBP, Mutation analysis)
Assaf Harofeh Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Castilla - León
SALAMANCA

Molecular diagnosis of chondrodysplasia punctata (EBP gene)
Innovagenomics, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics